Incidental Mutation 'R7882:Vmn2r88'
| ID |
628749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r88
|
| Ensembl Gene |
ENSMUSG00000000606 |
| Gene Name |
vomeronasal 2, receptor 88 |
| Synonyms |
V2r3, V2r13 |
| MMRRC Submission |
045934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.163)
|
| Stock # |
R7882 (G1)
|
| Quality Score |
40.0075 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51410819-51419527 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 51413046 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 72
(A72G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022438]
[ENSMUST00000159674]
[ENSMUST00000162998]
[ENSMUST00000228139]
|
| AlphaFold |
L7N1W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022438
AA Change: A72G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: A72G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
76 |
457 |
8.3e-27 |
PFAM |
|
Pfam:NCD3G
|
516 |
570 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
603 |
838 |
1.9e-55 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: A72G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
30 |
408 |
3.2e-30 |
PFAM |
|
Pfam:NCD3G
|
463 |
516 |
1.2e-19 |
PFAM |
|
Pfam:7tm_3
|
546 |
785 |
3.7e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163019
AA Change: A47G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: A47G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
52 |
399 |
3.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228139
AA Change: A72G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
C |
A |
3: 153,938,613 (GRCm38) |
E110* |
probably null |
Het |
| Adad1 |
G |
T |
3: 37,079,802 (GRCm38) |
V289F |
probably damaging |
Het |
| Adgra2 |
A |
G |
8: 27,117,412 (GRCm38) |
D717G |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,796,497 (GRCm38) |
I389M |
possibly damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,397,453 (GRCm38) |
V47A |
|
Het |
| Cachd1 |
T |
A |
4: 100,967,047 (GRCm38) |
L562M |
probably benign |
Het |
| Cadm2 |
A |
T |
16: 66,731,471 (GRCm38) |
I326N |
probably benign |
Het |
| Ccpg1 |
T |
C |
9: 73,015,505 (GRCm38) |
F799S |
probably damaging |
Het |
| Ces1c |
T |
C |
8: 93,106,603 (GRCm38) |
I411M |
probably benign |
Het |
| Cgn |
T |
G |
3: 94,762,634 (GRCm38) |
K1066N |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,353,723 (GRCm38) |
I101V |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,170,580 (GRCm38) |
E1928G |
probably benign |
Het |
| Cxcl12 |
A |
G |
6: 117,171,503 (GRCm38) |
Y28C |
probably damaging |
Het |
| Cyp2r1 |
A |
T |
7: 114,554,589 (GRCm38) |
|
probably null |
Het |
| D430041D05Rik |
C |
T |
2: 104,257,629 (GRCm38) |
W334* |
probably null |
Het |
| Dsp |
G |
A |
13: 38,184,018 (GRCm38) |
R671Q |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,126,794 (GRCm38) |
K1960R |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 92,068,478 (GRCm38) |
Y1331N |
probably damaging |
Het |
| Ina |
G |
A |
19: 47,015,661 (GRCm38) |
E303K |
|
Het |
| Kctd3 |
C |
A |
1: 188,983,046 (GRCm38) |
V369F |
possibly damaging |
Het |
| Kif14 |
T |
C |
1: 136,471,576 (GRCm38) |
|
probably null |
Het |
| Kif14 |
T |
C |
1: 136,516,025 (GRCm38) |
V1312A |
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,528,391 (GRCm38) |
I403V |
probably benign |
Het |
| Krtap9-1 |
A |
C |
11: 99,873,530 (GRCm38) |
T31P |
unknown |
Het |
| Lyrm9 |
A |
T |
11: 78,838,141 (GRCm38) |
I60F |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 84,913,318 (GRCm38) |
|
probably null |
Het |
| Mmp28 |
T |
C |
11: 83,443,926 (GRCm38) |
D334G |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,949,615 (GRCm38) |
T194A |
possibly damaging |
Het |
| Nrf1 |
A |
G |
6: 30,090,300 (GRCm38) |
I85M |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,783,521 (GRCm38) |
R758C |
probably damaging |
Het |
| Olfr1471 |
A |
T |
19: 13,445,587 (GRCm38) |
T192S |
probably benign |
Het |
| Pcdhga4 |
A |
G |
18: 37,686,628 (GRCm38) |
D410G |
probably damaging |
Het |
| Pld1 |
T |
C |
3: 28,045,009 (GRCm38) |
V275A |
probably damaging |
Het |
| Plxnc1 |
A |
T |
10: 94,843,836 (GRCm38) |
F895I |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,736,174 (GRCm38) |
I1486T |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,257 (GRCm38) |
M1449V |
probably benign |
Het |
| Rspo4 |
C |
A |
2: 151,869,826 (GRCm38) |
T156N |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,207,071 (GRCm38) |
I2189V |
probably benign |
Het |
| Stat5b |
A |
C |
11: 100,783,775 (GRCm38) |
F711V |
possibly damaging |
Het |
| Stk11ip |
C |
A |
1: 75,529,464 (GRCm38) |
Q543K |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 126,456,493 (GRCm38) |
T529M |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,429,196 (GRCm38) |
C886S |
possibly damaging |
Het |
| Tmem19 |
A |
G |
10: 115,343,703 (GRCm38) |
F296S |
probably benign |
Het |
| Tnfsf13b |
A |
G |
8: 10,007,078 (GRCm38) |
N79S |
not run |
Het |
| Vdac3 |
C |
A |
8: 22,579,057 (GRCm38) |
G214C |
probably damaging |
Het |
| Vmn2r18 |
A |
C |
5: 151,561,864 (GRCm38) |
F722V |
probably damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,483,410 (GRCm38) |
L293S |
possibly damaging |
Het |
| Xpot |
A |
G |
10: 121,619,091 (GRCm38) |
|
probably null |
Het |
| Zfp526 |
G |
A |
7: 25,221,435 (GRCm38) |
|
probably benign |
Het |
| Zfp532 |
A |
G |
18: 65,623,490 (GRCm38) |
T165A |
probably benign |
Het |
|
| Other mutations in Vmn2r88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,256 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,413,125 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00990:Vmn2r88
|
APN |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL02308:Vmn2r88
|
APN |
14 |
51,417,980 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL02481:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL02483:Vmn2r88
|
APN |
14 |
51,414,154 (GRCm38) |
missense |
probably benign |
|
|
IGL03241:Vmn2r88
|
APN |
14 |
51,418,373 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0052:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0070:Vmn2r88
|
UTSW |
14 |
51,414,140 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0799:Vmn2r88
|
UTSW |
14 |
51,414,502 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0906:Vmn2r88
|
UTSW |
14 |
51,418,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1322:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1352:Vmn2r88
|
UTSW |
14 |
51,418,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1639:Vmn2r88
|
UTSW |
14 |
51,416,787 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1780:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1834:Vmn2r88
|
UTSW |
14 |
51,413,030 (GRCm38) |
splice site |
probably benign |
|
|
R1911:Vmn2r88
|
UTSW |
14 |
51,418,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Vmn2r88
|
UTSW |
14 |
51,418,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2120:Vmn2r88
|
UTSW |
14 |
51,413,208 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2126:Vmn2r88
|
UTSW |
14 |
51,413,807 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2348:Vmn2r88
|
UTSW |
14 |
51,414,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2881:Vmn2r88
|
UTSW |
14 |
51,418,689 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2884:Vmn2r88
|
UTSW |
14 |
51,413,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3081:Vmn2r88
|
UTSW |
14 |
51,418,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3933:Vmn2r88
|
UTSW |
14 |
51,413,978 (GRCm38) |
missense |
probably benign |
0.44 |
|
R3967:Vmn2r88
|
UTSW |
14 |
51,413,190 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4091:Vmn2r88
|
UTSW |
14 |
51,415,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4378:Vmn2r88
|
UTSW |
14 |
51,413,289 (GRCm38) |
nonsense |
probably null |
|
|
R4397:Vmn2r88
|
UTSW |
14 |
51,417,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4418:Vmn2r88
|
UTSW |
14 |
51,418,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4609:Vmn2r88
|
UTSW |
14 |
51,418,074 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4647:Vmn2r88
|
UTSW |
14 |
51,418,793 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4672:Vmn2r88
|
UTSW |
14 |
51,418,155 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4684:Vmn2r88
|
UTSW |
14 |
51,413,334 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4686:Vmn2r88
|
UTSW |
14 |
51,413,339 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4720:Vmn2r88
|
UTSW |
14 |
51,413,245 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5046:Vmn2r88
|
UTSW |
14 |
51,413,181 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5063:Vmn2r88
|
UTSW |
14 |
51,411,146 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5619:Vmn2r88
|
UTSW |
14 |
51,413,910 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5652:Vmn2r88
|
UTSW |
14 |
51,418,572 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6020:Vmn2r88
|
UTSW |
14 |
51,418,149 (GRCm38) |
nonsense |
probably null |
|
|
R6103:Vmn2r88
|
UTSW |
14 |
51,415,369 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6674:Vmn2r88
|
UTSW |
14 |
51,414,338 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6799:Vmn2r88
|
UTSW |
14 |
51,413,969 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7089:Vmn2r88
|
UTSW |
14 |
51,418,643 (GRCm38) |
missense |
|
|
|
R7104:Vmn2r88
|
UTSW |
14 |
51,413,796 (GRCm38) |
missense |
|
|
|
R7265:Vmn2r88
|
UTSW |
14 |
51,418,319 (GRCm38) |
missense |
|
|
|
R7316:Vmn2r88
|
UTSW |
14 |
51,414,255 (GRCm38) |
missense |
|
|
|
R7552:Vmn2r88
|
UTSW |
14 |
51,410,858 (GRCm38) |
splice site |
probably null |
|
|
R7611:Vmn2r88
|
UTSW |
14 |
51,413,997 (GRCm38) |
missense |
|
|
|
R7667:Vmn2r88
|
UTSW |
14 |
51,417,989 (GRCm38) |
missense |
|
|
|
R7682:Vmn2r88
|
UTSW |
14 |
51,418,449 (GRCm38) |
missense |
|
|
|
R7755:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7811:Vmn2r88
|
UTSW |
14 |
51,418,703 (GRCm38) |
missense |
|
|
|
R7957:Vmn2r88
|
UTSW |
14 |
51,413,132 (GRCm38) |
missense |
|
|
|
R7998:Vmn2r88
|
UTSW |
14 |
51,414,108 (GRCm38) |
missense |
|
|
|
R8142:Vmn2r88
|
UTSW |
14 |
51,414,107 (GRCm38) |
missense |
|
|
|
R8186:Vmn2r88
|
UTSW |
14 |
51,418,700 (GRCm38) |
missense |
|
|
|
R8348:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8448:Vmn2r88
|
UTSW |
14 |
51,418,796 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8483:Vmn2r88
|
UTSW |
14 |
51,413,073 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8783:Vmn2r88
|
UTSW |
14 |
51,414,066 (GRCm38) |
missense |
|
|
|
R8859:Vmn2r88
|
UTSW |
14 |
51,418,806 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8916:Vmn2r88
|
UTSW |
14 |
51,411,136 (GRCm38) |
missense |
|
|
|
R8936:Vmn2r88
|
UTSW |
14 |
51,418,526 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9004:Vmn2r88
|
UTSW |
14 |
51,413,167 (GRCm38) |
missense |
|
|
|
R9038:Vmn2r88
|
UTSW |
14 |
51,414,033 (GRCm38) |
missense |
|
|
|
R9063:Vmn2r88
|
UTSW |
14 |
51,410,872 (GRCm38) |
start gained |
probably benign |
|
|
R9311:Vmn2r88
|
UTSW |
14 |
51,413,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9382:Vmn2r88
|
UTSW |
14 |
51,418,740 (GRCm38) |
missense |
|
|
|
R9483:Vmn2r88
|
UTSW |
14 |
51,411,184 (GRCm38) |
missense |
|
|
|
R9602:Vmn2r88
|
UTSW |
14 |
51,413,732 (GRCm38) |
missense |
|
|
|
V5622:Vmn2r88
|
UTSW |
14 |
51,413,127 (GRCm38) |
missense |
probably benign |
|
|
X0024:Vmn2r88
|
UTSW |
14 |
51,413,832 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
X0025:Vmn2r88
|
UTSW |
14 |
51,416,802 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,187 (GRCm38) |
missense |
|
|
|
Z1177:Vmn2r88
|
UTSW |
14 |
51,418,046 (GRCm38) |
frame shift |
probably null |
|
|
Z1190:Vmn2r88
|
UTSW |
14 |
51,413,201 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATCCCTGTGCTCAGACAAC -3'
(R):5'- GTCCTGTAAGACCTATGGCAC -3'
Sequencing Primer
(F):5'- TGTGCTCAGACAACACTTAAAGG -3'
(R):5'- TGGCACATGAATCATCTAAATAACAG -3'
|
| Posted On |
2020-06-18 |
Incidental Mutation